Combining a low dose of risdiplam, the active ingredient in Evrysdi, with a therapy like Spinraza (nusinersen) boosted SMN protein production beyond what the individual treatments do in cells from spinal muscular atrophy (SMA) patients, a study shows. The low-dose combination demonstrated synergistic benefits while minimizing the…
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For the cast and crew of the musical comedy “Most Likely Not To…”, remembering high school moments via a trip back to their high school reunion allows them to put the spotlight on life with disabilities and the way ableism colors everyday situations. The one-night show — performed today, on…
Children with spinal muscular atrophy (SMA) can still experience swallowing difficulties despite early treatment with disease-modifying therapies, a small study shows. Swallowing was either incomplete, with liquid remaining in the mouth and/or esophagus, and/or unsafe due to aspiration (the inhalation of liquid into the lungs), in all of the…
A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…
In a small real-world study that tracked adults with spinal muscular atrophy (SMA) treated with Evrysdi (risdiplam) for more than 18 months, most patients saw their motor function remain stable or even improve. Nearly all of the study’s participants reported being generally satisfied with the approved SMA medication…
A previously unknown breathing problem — called pseudo-obstructive sleep-disordered breathing — has been discovered among people with spinal muscular atrophy (SMA) type 2, a study reveals. This unusual breathing pattern during sleep is caused by an imbalance between the SMA-related weakness in the chest muscles and the relatively unaffected…
Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with standard…
Among women of reproductive age in a southern region of China, one in every 59 tested in a screening program was found to be a carrier of mutations in the SMN1 gene — the main cause of spinal muscular atrophy (SMA) — a new study reports. In the southern…
Long-term treatment with Spinraza (nusinersen) was associated with improved or stable motor function in patients across the spinal muscular atrophy (SMA) disease spectrum, according to an analysis of real-world registry data. “To date, this is the largest prospective study over the longest observational period of [Spinraza] therapy in…
The case of a 4.5-year-old girl with spinal muscular atrophy (SMA) type 2 who had acute pain and swelling in her legs after physiotherapy due to multiple fractures was recently described in India. The child had poor bone health, but the fractures were considered linked to…
